TRANSLATING RESEARCH FINDINGS INTO NEWS YOU CAN USE
BY: Sarah Foye
The FOXG1 Phenotype
BY: William Dobyns, M.D.
Kabuki Hour at ACMG Conference
Friday, March 18, 2011 11am-noon
Vancouver Convention Center Exhibit Hall Booth #315
Meet with Kabuki syndrome experts and learn about our experience with MLL2 sequencing.
Featuring
Helga Toriello, Ph.D., FACMG Medical Geneticist, Spectrum Health, Grand Rapids, MI
Louanne Hudgins, M.D., FAAP, FACMG Chief, Division of Genetics, Stanford University, Stanford, CA
Members of the University of Chicago Genetic Services laboratory
ACMG Annual Clinical Genetics Meeting March 16-20 Vancouver
Come visit us at the ACMG Annual Clinical Genetic Meeting in Vancouver, British Columbia, Canada! We look forward to talking to meeting you.
Exhibitor Hall Booth #315
FOXG1 Syndrome: More than a congenital variant of Rett Syndrome?
Rachelle Lorenz¹, Amy Goldstein², Sulagna Saitta³, Laurence E. Walsh4, Soma Das¹, William B Dobyns5. ¹Department of Human Genetics, University of Chicago, Chicago, IL, USA. 2Division of Child Neurology, Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA. 3Children’s Hospital of Philadelphia, Philadelphia, PA, USA. 4Department of Medical Genetics, Indiana University, Indianapolis, IN, USA. 5Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA.
Large-panel Gene Sequencing for the Rapid Diagnosis of Non-Syndromic Neurological Disease
Scott Topper, Viswateja Nelakuditi, Melissa A. Dempsey, Jelena Brezo, Soma Das
An overview of mutations and clinical spectrum in patients with ASPM-related primary microcephaly of different ethnicities: Perspectives from the Molecular Diagnostic Laboratory
Christopher Tan, Melissa Dempsey, Soma Das
Meet our New Associate Director - Daniela del Gaudio
We are proud to announce the newest addition to our staff, Dr. Daniela del Gaudio. Dr. del Gaudio received her PhD. in Clinical Molecular Biology from the University of Naples “Federico II”, Naples, Italy. Shortly after graduation, Dr. del Gaudio joined American Board of Medical Genetics training program at Baylor College of Medicine and became certified in Clinical Molecular Genetics. Prior to joining The University of Chicago Genetic Services, Dr.
Additional Testing for Autosomal Recessive Microcephaly
We are now offering testing for 7 genes associated with autosomal recessive microcephaly. Autosomal recessive primary microcephaly (MCPH) is characterized by:
New Testing for Kabuki Syndrome
Patients with Kabuki syndrome have characteristic facial features, short stature, congenital heart defects, skeletal anomalies, immunological abnormalities, and mild to moderate mental retardation. Facial features include long palpebral fissures with eversion of the lower lateral eyelid, sparse and arched eyebrows, depressed nasal tip, and large prominent earlobes. Other features include joint laxity, dental abnormalities, fingertip pads, and renal/urinary tract anomalies.